PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations....

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Autori principali: Southey, M, Goldgar, D, Winqvist, R, Pylkäs, K, Couch, F, Tischkowitz, M, Foulkes, W, Dennis, J, Michailidou, K, van Rensburg, E, Heikkinen, T, Nevanlinna, H, Hopper, J, Dörk, T, Claes, K, Reis-Filho, J, Teo, Z, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, F, Dowty, J, Schmidt, M, Broeks, A, Hogervorst, F, Verhoef, S, Carpenter, J, Clarke, C, Scott, R, Fasching, P, Haeberle, L, Ekici, A, Beckmann, M, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, M, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, S, Nielsen, S, Flyger, H, Benitez, J, Zamora, M, Perez, J, Menéndez, P, Anton-Culver, H, Neuhausen, S, Ziogas, A, Brenner, H, Arndt, V, Stegmaier, C, Brauch, H, Brüning, T, Ko, Y, Muranen, T, Aittomäki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V, Hartikainen, J, Spurdle, A, Investigators, K, Wauters, E, Smeets, D, Beuselinck, B, Floris, G, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Olson, J, Vachon, C, Pankratz, V, McLean, C, Haiman, C, Henderson, B, Schumacher, F, Le Marchand, L, Kristensen, V, Alnæs, G, Zheng, W, Hunter, D, Lindstrom, S, Hankinson, S, Kraft, P, Andrulis, I, Knight, J, Glendon, G, Mulligan, A, Jukkola-Vuorinen, A, Grip, M, Kauppila, S, Devilee, P, Tollenaar, R, Seynaeve, C, Hollestelle, A, Garcia-Closas, M, Figueroa, J, Chanock, S, Lissowska, J, Czene, K, Darabi, H, Eriksson, M, Eccles, D, Rafiq, S, Tapper, W, Gerty, S, Hooning, M, Martens, J, Collée, J, Tilanus-Linthorst, M, Hall, P, Li, J, Brand, J, Humphreys, K, Cox, A, Reed, M, Luccarini, C, Baynes, C, Dunning, A, Hamann, U, Torres, D, Ulmer, H, Rüdiger, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Slager, S, Toland, A, Ambrosone, C, Yannoukakos, D, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, González-Neira, A, Pita, G, Alonso, M, Álvarez, N, Herrero, D, Tessier, D, Vincent, D, Bacot, F, Simard, J, Dumont, M, Soucy, P, Eeles, R, Muir, K, Wiklund, F, Gronberg, H, Schleutker, J, Nordestgaard, B, Weischer, M, Travis, R, Neal, D, Donovan, J, Hamdy, F, Khaw, K, Stanford, J, Blot, W, Thibodeau, S, Schaid, D, Kelley, J, Maier, C, Kibel, A, Cybulski, C, Cannon-Albright, L, Butterbach, K, Park, J, Kaneva, R, Batra, J, Teixeira, M, Kote-Jarai, Z, Olama, A, Benlloch, S, Renner, S, Hartmann, A, Hein, A, Ruebner, M, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Lambretchs, S, Doherty, J, Rossing, M, Nickels, S, Eilber, U, Wang-Gohrke, S, Odunsi, K, Sucheston-Campbell, L, Friel, G, Lurie, G, Killeen, J, Wilkens, L, Goodman, M, Runnebaum, I, Hillemanns, P, Pelttari, L, Butzow, R, Modugno, F, Edwards, R, Ness, R, Moysich, K, du Bois, A, Heitz, F, Harter, P, Kommoss, S, Karlan, B, Walsh, C, Lester, J, Jensen, A, Kjaer, S, Høgdall, E, Peissel, B, Bonanni, B, Bernard, L, Goode, E, Fridley, B, Vierkant, R, Cunningham, J, Larson, M, Fogarty, Z, Kalli, K, Liang, D, Lu, K, Hildebrandt, M, Wu, X, Levine, D, Dao, F, Bisogna, M, Berchuck, A, Iversen, E, Marks, J, Akushevich, L, Cramer, D, Schildkraut, J, Terry, K, Poole, E, Stampfer, M, Tworoger, S, Bandera, E, Orlow, I, Olson, S, Bjorge, L, Salvesen, H, van Altena, A, Aben, K, Kiemeney, L, Massuger, L, Pejovic, T, Bean, Y, Brooks-Wilson, A, Kelemen, L, Cook, L, Le, N, Górski, B, Gronwald, J, Menkiszak, J, Høgdall, C, Lundvall, L, Nedergaard, L, Engelholm, S, Dicks, E, Tyrer, J, Campbell, I, McNeish, I, Paul, J, Siddiqui, N, Glasspool, R, Whittemore, A, Rothstein, J, McGuire, V, Sieh, W, Cai, H, Shu, X, Teten, R, Sutphen, R, McLaughlin, J, Narod, S, Phelan, C, Monteiro, A, Fenstermacher, D, Lin, H, Permuth, J, Sellers, T, Chen, Y, Tsai, Y, Chen, Z, Gentry-Maharaj, A, Gayther, S, Ramus, S, Menon, U, Wu, A, Pearce, C, Van Den Berg, D, Pike, M, Dansonka-Mieszkowska, A, Plisiecka-Halasa, J, Moes-Sosnowska, J, Kupryjanczyk, J, Pharoah, P, Song, H, Winship, I, Chenevix-Trench, G, Giles, G, Tavtigian, S, Easton, D, Milne, R
Natura: Journal article
Lingua:English
Pubblicazione: BMJ Publishing Group 2016